A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens (original) (raw)

References

  1. Arikawa, K., Molday, L.L., Molday, R.S. & Williams, D.S. Localization of peripherin/rds in the disk membranes of cone and rod photoreceptors: relationship to disk membrane morphogenesis and retinal degeneration. J. Cell Biol. 116, 659–667 (1992).
    Article CAS PubMed Google Scholar
  2. Connell, G.J. & Molday, R.S. Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. Biochem. 29, 4691–4698 (1990).
    Article CAS Google Scholar
  3. Connell, G., Bascom, R., Molday, L., Reid, D., McInnes, R.R. & Molday, R.S. Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse. Proc. natn Acad. Sci. U.S.A. 88, 723–726 (1991).
    Article CAS Google Scholar
  4. Travis, G.H., Brennan, M.B., Danielson, P.E., Kozak, C.A. & Sutcliffe, J.G. Identification of a photoreceptor-specific mRNA encoded by the gene responsible for retinal degeneration slow (rds). Nature 338, 70–73 (1989).
    Article CAS PubMed Google Scholar
  5. Begy, C. & Bridges, C.D. Nucleotide and predicted protein sequence of rat retinal degeneration slow(rds). Nucl. Acids Res. 18, 3058 (1990).
    Article CAS PubMed PubMed Central Google Scholar
  6. Travis, G.H. et al. The human retinal degeneration slow (RDS) gene: chromosomal assignment and structure of the mRNA. Genomics 10, 733–739 (1991).
    Article CAS PubMed Google Scholar
  7. van Nie, R., Ivanyi, D. & Demant, P. A new H-2 linked mutation, rds, causing retinal degeneration in the mouse. Tissue Antigens 12, 106–108 (1978).
    Article CAS PubMed Google Scholar
  8. Travis, G.H., Groshan, K.R., Lloyd, M. & Bok, D. Complete rescue of photoreceptor dysplasia and degeneration in transgenic retinal degeneration slow (rds) mice. Neuron 9, 113–119 (1992).
    Article CAS PubMed Google Scholar
  9. Kajiwara, K., Hahn, L.B., Mukai, S., Travis, G.H., Berson, E.L. & Dryja, T.P. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 354, 480–483 (1991).
    Article CAS PubMed Google Scholar
  10. Farrar, G.J. et al. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 354, 478–480 (1991).
    Article CAS PubMed Google Scholar
  11. Orita, M. et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. natn. Acad. Sci. USA. 86, 2766–2770 (1989).
    Article CAS Google Scholar
  12. Berson, E.L. Retinitis pigmentosa and allied retinal diseases: electrophysiologic findings. Trans. Am. Acad. Ophthalmol. Otolaryngol. 81, 659–666 (1976).
    Google Scholar
  13. Sandberg, M.A., Miller, S. & Berson, E.L. Rod electroretinograms in an elevated cyclic guanosine monophosphate-type human retinal degeneration. Invest. Ophthal. vis. Sci. 31, 2283–2287 (1990).
    CAS PubMed Google Scholar
  14. Lauber, H. Die sogenannte Retinitis punctata albescens. Klin. Monatsbl. Augenheilkd. 48, 133–148 (1910).
    Google Scholar
  15. Franceschetti, A., Francois, J. & Babel, J. Chorioretinal Heredodegenerations 229 (Charles C. Thomas, Springfield, Illinois, 1963).
    Google Scholar
  16. Diem, M. Retinitis punctata albescens et pigmentosa. Klin. Monatsbl. Augenheilkd. 53, 371–379 (1914).
    Google Scholar
  17. Pillat, A. Tapetoretinal degeneration of the central fundus region. Am. J. Ophthalmol. 13, 1–12 (1930).
    Article Google Scholar
  18. Wuestefeld, F. Zur Casuistik der Retinitis punctata albescens. Zeitschr. f. Augenheilk. 5, 110–115 (1901).
    Google Scholar
  19. Ellis, D.S. & Heckenlively, J.R. Retinitis punctata albescens. Fundus appearance and functional abnormalities. Retina 3, 27–31 (1983).
    Article Google Scholar
  20. Nettleship, E. A note on the progress of some cases of retinitis pigmentosa sine pigmento and of retinitis punctata albescens. Royal Lond. Ophthal. Hosp. Rep. 19, 123–129 (1914).
    Google Scholar
  21. Kinniburgh, A.J., Maquat, L.E., Schedl, T., Rachmilewitz, E.A. & Ross, J. mRNA-deficient β° thalassemia results from a single nucleotide deletion. Nuc. Acids Res. 10, 5421–5427 (1982).
    Article CAS Google Scholar
  22. Sanyal, S., Chader, G. & Aguirre, G. in Retinal Degenerations: Experimental and Clinical Studies 239–256 (Alan R. Liss, New York, 1985).
    Google Scholar
  23. Wataya, T. A histopathological study of retinitis punctata albescens. Jpn. J. clin. Ophthalmol. 14, 552–555 (1960).
    Google Scholar
  24. Dryja, T.P., Hahn, L.B., Cowley, G.S., McGee, T.L. & Berson, E.L. Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa. Proc. natn. Acad. Sci. U.S.A. 88, 9370–9374 (1991).
    Article CAS Google Scholar
  25. Sung, C.H. et al. Rhodopsin mutations in autosomal dominant retinitis pigmentosa. Proc. natn. Acad. Sci. U.S.A. 88, 6481–6485 (1991).
    Article CAS Google Scholar
  26. Inglehearn, C.F. et al. A completed screen for mutations of the rhodopsin gene in a panel of patients with autosomal dominant retinitis pigmentosa. Hum. molec. Genet. 1, 41–45 (1992).
    Article CAS PubMed Google Scholar
  27. Sheffield, V.C., Fishman, G.A., Beck, J.S., Kimura, A.E. & Stone, E.M. Identification of novel rhodopsin mutations associated with retinitis pigmentosa by GC-clamped denaturing gradient gel electrophoresis. Am. J. hum. Genet. 49, 699–706 (1991).
    CAS PubMed PubMed Central Google Scholar
  28. Rosenfeld, P.J. et al. A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet. 1, 209–213 (1992).
    Article CAS PubMed Google Scholar
  29. Yandell, D.W. & Dryja, T.P. Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing. Am. J. hum. Genet. 45, 547–555 (1989).
    CAS PubMed PubMed Central Google Scholar
  30. Yandell, D.W. & Dryja, T.P. in Cold Spring Harbor Symposium Series: Cancer Cells 7 - Molecular Diagnostics of Human Cancer (eds Furth, M. & Greaves, M.) 223–227 (Cold Spring Harbor Press, New York, 1989).
  31. Berson, E.L., Gouras, P. & Gunkel, R.D. Rod responses in retinitis pigmentosa, dominantly inherited. Arch. Ophthalmol. 80, 58–67 (1968).
    Article CAS PubMed Google Scholar
  32. Reichel, E., Bruce, A.M., Sandberg, M.A. & Berson, E.L. An electroretinographic and molecular genetic study of X-linked cone degeneration. Am. J. Ophthalmol. 108, 540–547 (1989).
    Article CAS PubMed Google Scholar

Download references